R115W (p.Arg115Trp) variant of SF3B1 (Splicing factor 3B subunit 1)
R115W (p.Arg115Trp) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
R115W (p.Arg115Trp) variant details
- p.Arg115Trp
- cosmic curated COSV10965
- ExAC rs757758244
- gnomAD rs757758244
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.57
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available